R109Q (p.Arg109Gln) variant of E2F1 (Transcription factor E2F1)
R109Q (p.Arg109Gln) in E2F1 (Transcription factor E2F1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
R109Q (p.Arg109Gln) variant details
- p.Arg109Gln
- 1000Genomes rs199740633
- TOPMed rs199740633
- gnomAD rs199740633
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.06
- CADD 24.90
- PolyPhen-2 0.54
- SIFT 0.05
- Most common in the 1KG:CHS population (allele frequency 0.0049)